SHORT syndrome is a rare autosomal dominant disorder characterized by multiple congenital defects and is historically defined by its acronym short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay. Herein, we report a male infant with SHORT syndrome who presented with transient neonatal diabetes mellitus (TNDM) with insulin resistance. The proband was born at 38 weeks of gestation but displayed facial dysmorphic features. Intrauterine growth restriction (IUGR) was detected on a prenatal ultrasonography test. His birth weight was 1.8 kg (T (p.Arg649Trp) in exon 15 of the phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) known as the causative gene for SHORT syndrome. Examination of the patient at 10 months of age revealed no hyperglycemic episode and glycated hemoglobin level was 5.2%. To the best of our knowledge, this is the first case of TNDM in SHORT syndrome due to a pathogenic variant of PIK3R1. We believe that our case can aid in expanding the phenotypes of SHORT syndrome.The COVID-19 pandemic has highlighted the necessity for scientists from diverse disciplines to collaboratively mitigate the singular calamity facing humanity this century. The ability of researchers to combine exponential advances in technology and scientific acumen has resulted in landmark discoveries in pediatric research and is surmounting the COVID-19 challenge. Several of these discoveries exist in a realm of research that is not classically "basic" or "clinical." Translational research characterizes this domain partially, but does not fully capture the integrated research approaches that have spurred these discoveries. Herein, we share our perspective on the common themes underpinning the basic and clinical research. We also highlight major differences in the scope, emphasis, approach, and limitations of basic and clinical research that impede multi-disciplinary approaches that facilitate truly transformative research. These differences in research thinking and methodology are ingrained during training wherein the limitations of the chosen discipline, and strengths of alternate disciplines are not adequately explored. Insular approaches are particularly limited in impacting complex diseases pathophysiology in the era of precision medicine. We propose that integration of -omics technologies, systems biology, adaptive clinical trial designs, humanized animal models, and precision pre-clinical model systems must be incorporated into research training of future scientists. Several initiatives from the NIH and other institutions are facilitating such broad-based "research without frontiers" training that paves the way for seamless, multi-disciplinary, research. Such efforts become "transformative" when scientific challenges are tackled in partnership with a willingness to share ideas, tackle challenges, and develop tools/models from the very beginning.Objective Thirty years ago it was demonstrated that folic acid taken before pregnancy and in early pregnancy reduced the risk of a neural tube defect (NTD). Despite Public Health Initiatives across Europe recommending that women take 0.4 mg folic acid before becoming pregnant and during the first trimester, the prevalence of NTD pregnancies has not materially decreased in the EU since 1998, in contrast to the dramatic fall observed in the USA. This study aimed to estimate the number of NTD pregnancies that would have been prevented if flour had been fortified with folic acid in Europe from 1998 as it had been in the USA. https://www.selleckchem.com/products/bms-986165.html Design and Setting The number of NTD pregnancies from 1998 to 2017 that would have been prevented if folic acid fortification had been implemented in the 28 countries who were members of the European Union in 2019 was predicted was predicted using data on NTD prevalence from 35 EUROCAT congenital anomaly registries and literature searches for population serum folate levels and folic acid supplementation. Results From 1998 to 2017 an estimated 95,213 NTD pregnancies occurred amongst 104 million births in the 28 countries in the EU, a prevalence of 0.92 per 1,000 births. The median serum folate level in Europe over this time period was estimated to be 14.1 μg/L. There is a lack of information about women taking folic acid supplements before becoming pregnant and during the first trimester of pregnancy, with one meta-analysis indicating that around 25% of women did so. An estimated 14,600 NTD pregnancies may have been prevented if the European countries had implemented fortification at the level adopted by the USA in 1998 and 25% of women took folic acid supplements. An estimated 19,500 NTD pregnancies would have been prevented if no women took folic acid supplements. Conclusions This study suggests that failure to implement mandatory folic acid fortification in the 28 European countries has caused, and continues to cause, neural tube defects to occur in almost 1,000 pregnancies every year.Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, potentially fatal autosomal-recessive immunodeficiency, and STXBP2 mutations have been associated with FHL type 5 (FHL-5). Here, we report a case of a 2-year-old boy who presented with recurrent fever, hepatosplenomegaly, pancytopenia, hyperferritinemia, and hypofibrinogenemia since 4 months of age. His genetic analysis revealed a compound heterozygosity of the STXBP2 gene with a described pathogenic mutation, c.1247-1G&gt;C (splicing acceptor site), harbored by his father and a likely pathogenic variant of uncertain significance (VUS), c.704G&gt;A (p.Arg235Gln), harbored by his mother. He was diagnosed as compound heterozygous for FHL-5 and was treated with the HLH-2004 protocol. Since treatment, this patient has been in remission, and he is being evaluated for a hematopoietic stem cell transplantation (HSCT).The rising prevalence of diabetes shows high health and socio-economic burdens. Therefore, the development and evaluation of new diagnostic methods may improve the detection of disease and its complications in the early stages. This study aimed to analyze the scope of the studies related to diabetes diagnosis.
Publications from January 2015 until December 2019 (5 years) were searched with keywords of (diabetes OR diabetic) AND (Iran) in Scopus and PubMed databases. All data were reviewed by two reviewers and the included publications were categorized based on the subjects, study design, and publication year.
Based on the selected criteria, 103 articles were included. The highest number of publications was observed in 2019. The trend of publication was slightly increased during the study period (2015-2019). Case-control and cross-sectional studies were the most common type of study design used in the included documents. Publications in the field of diagnostic models, biomarkers, and biosensors from 2015 to 2019 showed an increasing trend compared to others subjects.